Trait: preeclampsia

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000668
Description Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. [Orphanet: 275555]
Trait category
Cardiovascular disease
Synonyms 66 synonyms
  • EPH - Edema, proteinuria and hypertension of pregnancy
  • EPH - Oedema, proteinuria and hypertension of pregnancy
  • EPH Complex
  • EPH Gestosis
  • EPH Toxemia
  • EPH Toxemias
  • Edema Proteinuria Hypertension Gestosis
  • Edema-Proteinuria-Hypertension Gestosis
  • Gestational hypertension
  • Gestational hypertension (disorder)
  • Gestosis, EPH
  • Gestosis, Edema-Proteinuria-Hypertension
  • Gestosis, Hypertension-Edema-Proteinuria
  • Gestosis, Proteinuria-Edema-Hypertension
  • Hypertension Edema Proteinuria Gestosis
  • Hypertension-Edema-Proteinuria Gestosis
  • PE - Pre-eclampsia
  • PET - Pre-eclamptic toxaemia
  • PET - Pre-eclamptic toxemia
  • PREECLAMPSIA/ECLAMPSIA
  • PREGN TOXEMIAS
  • Pre Eclampsia
  • Pre-Eclampsia
  • Pre-eclampsia (disorder)
  • Pre-eclampsia NOS
  • Pre-eclampsia NOS (disorder)
  • Pre-eclampsia, unspecified
  • Pre-eclamptic NOS
  • Pre-eclamptic toxaemia
  • Pre-eclamptic toxemia
  • Pregnancy Toxemia
  • Pregnancy Toxemias
  • Pregnancy associated hypertension
  • Pregnancy-induced hypertension (disorder)
  • Proteinuria Edema Hypertension Gestosis
  • Proteinuria-Edema-Hypertension Gestosis
  • Proteinuric hypertension of pregnancy
  • Toxaemia NOS
  • Toxaemia of pregnancy
  • Toxaemia of pregnancy, NOS
  • Toxemia
  • Toxemia NOS
  • Toxemia NOS (disorder)
  • Toxemia of Pregnancy
  • Toxemia of pregnancy (disorder)
  • Toxemia of pregnancy, NOS
  • Toxemia, EPH
  • Toxemia, Pregnancy
  • Toxemias, EPH
  • Toxemias, Pregnancy
  • gestational hypertension
  • hypertension induced by pregnancy
  • hypertension of preg.
  • hypertension of pregnancy NOS
  • hypertension of pregnancy NOS (disorder)
  • pre-eclampsia
  • pre-eclamptic toxaemia
  • pre-eclamptic toxemia
  • preeclampsia
  • preeclampsia/eclampsia
  • pregnancy associated hypertension
  • pregnancy toxaemia
  • pregnancy toxemia
  • proteinuric hypertension of pregnancy
  • toxaemia of pregnancy
  • toxemia of pregnancy
Mapped terms 27 mapped terms
  • DOID:10591
  • GARD:12924
  • ICD10:O13
  • ICD10:O14
  • ICD10:O16
  • ICD9:642.40
  • ICD9:642.41
  • ICD9:642.42
  • ICD9:642.43
  • ICD9:642.44
  • MEDGEN:18608
  • MESH:D011225
  • MONDO:0005081
  • MeSH:D011225
  • MeSH:D014115
  • MedDRA:10036485
  • NCIT:C85021
  • NCIt:C85021
  • OMIM:189800
  • OMIM:609404
  • OMIM:614595
  • OMIMPS:189800
  • Orphanet:275555
  • SCTID:398254007
  • SNOMEDCT:15394000
  • SNOMEDCT:398254007
  • UMLS:C0032914

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003586
(PE)
 PGP000462 |
Honigberg MC et al. Nat Med (2023)
 Pre-eclampsia preeclampsia 1,087,033
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003586/ScoringFiles/PGS003586.txt.gz
PGS003587
(GH)
 PGP000462 |
Honigberg MC et al. Nat Med (2023)
 Gestational hypertension preeclampsia 1,087,916
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003587/ScoringFiles/PGS003587.txt.gz
PGS004593
(pe)
 PGP000574 |
Nurkkala J et al. J Hypertens (2022)
 Preeclampsia preeclampsia 1,102,059
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004593/ScoringFiles/PGS004593.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM018280 PGS003586
(PE)
 PSS010956|
European Ancestry|
25,582 individuals
 PGP000462 |
Honigberg MC et al. Nat Med (2023)
 Reported Trait: Pre-eclampsia/eclampsia OR: 1.31 [1.24, 1.38] — — maternal age at delivery, age2, and the first ten principal components of genetic ancestry —
PPM018281 PGS003587
(GH)
 PSS010956|
European Ancestry|
25,582 individuals
 PGP000462 |
Honigberg MC et al. Nat Med (2023)
 Reported Trait: Pre-eclampsia/eclampsia OR: 1.2 [1.14, 1.26] — — maternal age at delivery, age2, and the first ten principal components of genetic ancestry —
PPM020743 PGS004593
(pe)
 PSS011387|
European Ancestry|
138,317 individuals
 PGP000574 |
Nurkkala J et al. J Hypertens (2022)
 Reported Trait: Gestational hypertension HR: 1.16 [1.14, 1.19] — — Collection year, genotyping batch, and the first 10 genetic principal components —
PPM020744 PGS004593
(pe)
 PSS011388|
European Ancestry|
136,354 individuals
 PGP000574 |
Nurkkala J et al. J Hypertens (2022)
 Reported Trait: Preeclampsia HR: 1.21 [1.18, 1.24] — — Collection year, genotyping batch, and the first 10 genetic principal components —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS011387 — —
[
  • 8,488 cases
  • , 129,829 controls
]
,
0.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS011388 — —
[
  • 6,643 cases
  • , 129,711 controls
]
,
0.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS010956 — —
[
  • 1,569 cases
  • , 24,013 controls
]
 — European — HUNT —